Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

about

A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations.

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P2860

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

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http://www.wikidata.org/entity/Q43899060

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2002 nî lūn-bûn

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2002年の論文

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2002年学术文章

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2002年学术文章

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2002年学术文章

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name

Epidermolysis bullosa simplex ...... ution in exon 1 of keratin 14.

@en

Epidermolysis bullosa simplex ...... ution in exon 1 of keratin 14.

@nl

type

Item

label

Epidermolysis bullosa simplex ...... ution in exon 1 of keratin 14.

@en

Epidermolysis bullosa simplex ...... ution in exon 1 of keratin 14.

@nl

prefLabel

Epidermolysis bullosa simplex ...... ution in exon 1 of keratin 14.

@en

Epidermolysis bullosa simplex ...... ution in exon 1 of keratin 14.

@nl

P1476

Epidermolysis bullosa simplex ...... ution in exon 1 of keratin 14.

@en

P2093

Champi Premaratne

http://www.w3.org/2001/XMLSchema#string

Dédée Murrell

http://www.w3.org/2001/XMLSchema#string

Ian Glass

http://www.w3.org/2001/XMLSchema#string

Kellie Wright

http://www.w3.org/2001/XMLSchema#string

Sandra Klingberg

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P2860

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein

The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

The CpG dinucleotide and human genetic disease

Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

P304

28-34

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scholarly article

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10.1046/J.1440-0960.2002.00548.X

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P433

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P478

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2002-02-01T00:00:00Z

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P5875

11493448

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P698

11869205

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Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

about

P2860

P2860

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

description

name

type

label

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698